๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Reluctance to accept FG syndrome diagnosis

โœ Scribed by Chrzanowska, K.; Kozlowski, K.


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
1 KB
Volume
83
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990423)83:5<430::aid-ajmg19>3.0.co;2-y

No coin nor oath required. For personal study only.

โœฆ Synopsis


Comment of Drs. Rouch, Opitz, and Walker on our case report of "Syndromic Foramina


๐Ÿ“œ SIMILAR VOLUMES


Clinical and behavioral characteristics
โœ Graham, John M.; Superneau, Duane; Rogers, R. Curtis; Corning, Ken; Schwartz, Ch ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 55 KB ๐Ÿ‘ 2 views
Esophageal dysmotility in brothers with
โœ Smith, Robert L.; Edwards, Matthew J.; Notaras, Elizabeth; O'Loughlin, Edward V. ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 29 KB

We present 4 brothers with developmental delay, minor anomalies, and symptoms due to gastrointestinal dysmotility. There was some resemblance with FG syndrome, although none of the brothers had sufficient findings to make this diagnosis. The index case presented with at age 1 month with screaming ep

Barraquer-Simons syndrome (with sensorin
โœ Spranger, Stephanie; Spranger, Matthias; Tasman, Abel-Jan; Reith, Wolfgang; Voig ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 20 KB ๐Ÿ‘ 1 views

Among the lipodystrophies, the Barraquer-Simons syndrome is a rare condition. We describe a 27-year-old woman with progressive loss of subcutaneous fat after 15 years first affecting the face and spreading to the upper part of the body. She also suffered from deafness and had marked changes in crani

FG syndrome: Report of three new familie
โœ Graham, John M.; Tackels, Darci; Dibbern, Kurt; Superneau, Duane; Rogers, Curtis ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 70 KB ๐Ÿ‘ 1 views

FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974 in five related males with mental retardation, disproportionately large heads, imperforate anus, and congenital hypotonia. Partial agenesis of the corpus callosum was noted in at least